| First Author | Aubin I | Year | 2005 |
| Journal | Nat Genet | Volume | 37 |
| Issue | 8 | Pages | 803-5 |
| PubMed ID | 16025116 | Mgi Jnum | J:100158 |
| Mgi Id | MGI:3587156 | Doi | 10.1038/ng1603 |
| Citation | Aubin I, et al. (2005) A deletion in the gene encoding sphingomyelin phosphodiesterase 3 (Smpd3) results in osteogenesis and dentinogenesis imperfecta in the mouse. Nat Genet 37(8):803-5 |
| abstractText | The mouse mutation fragilitas ossium (fro) leads to a syndrome of severe osteogenesis and dentinogenesis imperfecta with no detectable collagen defect. Positional cloning of the locus identified a deletion in the gene encoding neutral sphingomyelin phosphodiesterase 3 (Smpd3) that led to complete loss of enzymatic activity. Our knowledge of SMPD3 function is consistent with the pathology observed in mutant mice and provides new insight into human pathologies. |
